Lhermitte-Duclos Disease: A Rare Lesion with Variable Presentations and Obscure Histopathology

Since Lhermitte-Duclos is a quite rare disorder with both neoplastic and hamartomatous features, clinical and pathological diagnosis can sometimes be challenging. For the pathologist it is of extreme importance to be aware of variable clinical and histopathological presentations of such a rare lesion particularly to differentiate it from the low-grade glial and neuronal tumors. We present four cases of Lhermitte-Duclos in a histopathological perspective. Although enlargement of the internal granular layer of the cerebellum is a consistent finding in our cases, morphological severity was highly variable and in some cases the enlargement was insignificant. Frozen sections of one case did not reveal diagnostic findings. The vacuolar change observed in the paraffin sections was obscure in the frozen. Pathological diagnosis of Lhermitte-Duclos disease can be extremely difficult in the absence of proper clinical information and the pathologist should be watchful for any irregularity in the internal granular layer in evaluating the cerebellar tissue which is otherwise normal.